There is testing that can be performed on a pregnancy to see if a baby has chromosome 1p36 microdeletion syndrome. There are two types of tests that can be done. One test is called a screening test. A screening test can’t tell you if a pregnancy is affected. It just tells you if there is a higher chance than normal that the baby is affected. The other type of test is called a diagnostic test. A diagnostic test tells you if the baby is affected.
The screening test for chromosome 1p36 microdeletion syndrome is called non-invasive prenatal testing (NIPT). It can also be called cell free fetal DNA testing. In this test, a blood sample is taken from the mother. A pregnant woman has small pieces of her baby’s DNA floating in her blood. These pieces of DNA are collected and tested. This test tells you if there is a higher or lower chance than normal for the baby to have certain disorders. If the test shows that there is a high chance, then a diagnostic test is offered.
If a mother or father has a higher chance to have a baby with chromosome 1p36 microdeletion syndrome, a diagnostic test can be performed on the pregnancy. These tests are done by taking a sample of the placenta or the fluid surrounding the baby. Chorionic villus sampling (CVS) is done by taking a small piece of placenta by inserting a needle through the vagina and cervix. It can also be done by inserting a needle through the stomach. Amniocentesis is done by taking a sample of the fluid that is around the baby. This is done by inserting a needle through the stomach. The samples contain genetic material from the baby. There are different tests that can be done on these samples. They are:
Other Questions About Chromosome 1p36 deletion syndrome
- Who else in the family should be tested if someone is found to have chromosome 1p36 microdeletion syndrome?
- What is the usual abbreviation for chromosome 1p36 microdeletion syndrome?
- What is the prognosis for individuals with chromosome 1p36 microdeletion syndrome?
- What is the difference between a terminal chromosome 1p36 microdeletion and an interstitial chromosome 1p36 deletion?
- What is chromosome 1p36 microdeletion syndrome?
